Possible CF?

[ksflash]

Hi, everyone. This is my first post here. My 7 yo son was admitted into the hospital last weekend with severe dehydration and pneumonia. Several doctors recommended seeing a geneticist/metabolicist to look into why my son dehydrates so easily (this is his 2nd admission after a "nothing" bug) and why he has pneumonia so frequently (11 times). Officially, he's been diagnosed with asthma and is being treated as such. He has no digestive symptoms, and grew very well until the past few years when his growth went from the 95% to the 50% height percentiles. But that could be due to the inhaled steroids he's on for asthma. He also had a sweat test several years ago which was negative. So my question is, are sweat tests ever wrong? If my son has CF, wouldn't someone else in my family somewhere have had CF? I read in another post that some people are affected in their lungs but not their digestive tract. Could my son be affected ONLY in his lungs (not digestive, sinuses, etc.)? We will be having him evaluated, I'm just trying to get as educated as possible before the appointment. If any of you have ideas on what questions to ask the doctor, or any things for my husband and me to consider, I'd love to hear your thoughts. BTW, we have four children: three extremely healthy, and the youngest who has constant pulmonary issues. Thank you!
Amy

 

[anonymous]

Hi Amy,

Sorry to hear about your son. You must be frustrated with his symptoms and lack of diagnosis. Yes, sweat tests can be wrong - - especially if they are performed at a hospital that does not regularly give them. It's always recommended to have sweat tests done at children's hospitals where they are done routinely. Yes, CF can affect the digestive system w/o pulmonary and vice versa. There are so many cf mutations and each child is very different.

I'm not a physician, but I think the drop in your son's weight is red flag. "Failure to thrive" and drop in weight are symptoms of cf. My son went from being over the 50% during his first few months of birth to below the charts. Unfortunately, general physicians and even pediatrians know very little about cf. Even with my husband being in the medical field, we saw several doctors until a physician's assistant finally listened to our worries and suggested a sweat test.

Please feel free to email me and keep us posted. I hope your son recovers soon and you are able to get some answers.

Carey
Bono40@aol.com

 

[Emily65Roses]

"If my son has CF, wouldn't someone else in my family somewhere have had CF?"

My mom was in a family of 6 kids. One aunt has 4 kids, another has none, my mom has 2. One uncle has 2 kids, another has 4, and the last has 2. My father was one of 2, and his sister has 3 kids. I am the only one in the whole family that has CF.

 

[anonymous]

<<My mom was in a family of 6 kids. One aunt has 4 kids, another has none, my mom has 2. One uncle has 2 kids, another has 4, and the last has 2. My father was one of 2, and his sister has 3 kids. I am the only one in the whole family that has CF. >>

Glad you brought that up, Emily. There can be 0 family history and you can still have CF. You and your husband wouldn't know that you are cf carriers - my husband and I had no idea until my son tested positive for it. We did some research and found a family history way way back (and distant relatives too). But, I think it's safe to say that in most families, there is no family history.

Carey

 

[anonymous]

Hi, Amy. As far as the sweat test, I'm pretty new to all of this, but our unborn daughter (due in Sept) was diagnosed with CF after a CVS. The specialist that we saw for an early consultation told us that because of the genes she carries, her sweat test will likely come out negative or borderline. I think genetic testing is the only way of getting a truly accurate diagnosis.

I'm not sure how to arrange the genetic testing, but I do know you should definitely go through a CF accredited clinic.

Best wishes, and I hope they are able to pin down what is causing your son's pulmonary issues very soon.

-- Jenica

 

[anonymous]

Thanks for the replies, everyone. I'm also wondering, has anyone had acidosis? Both times that my son was dehydrated he had hyponatremia, hypochloremia (sp?) and metabolic acidosis. I'm really looking forward to having the CF/metabolic question put to rest - one way or the other! Again, thanks for any input.
Amy

 

[anonymous]

Amy,

My husband has DeltaF508 and R117H mutations and had a negative sweat test. His only symptom is absence of vas deferens (he is sterile).
We have 1 child in the process of genetic testing and I'm pregnant with the 2nd. Even though our daughter tested negative on the sweat test, they are currently perfoming a genetic mutation screening via the blood o rule her out as having CF.
Best of luck....if their is anything I can do please write.

Kathy
Kathyrossiter@aol.com